Goldenhar syndrome

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.

Skin tags

Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.


合計: 2

                      


(表示件数)
PMID (PMCID)
23852257
FEMALE
Goldenhar syndrome.
Sharma N, Passi S.
Indian J Dent Res. 2013;24(1):149.
Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.
24341148
FEMALE Adult
Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography.
Guzelmansur I, Ceylaner G, Ceylaner S, Ceylan N, Daplan T.
Genet Couns. 2013;24(3):319-25.
Postnatal evaluation also revealed ambiguous genitalia and club feet in addition to the prenatally and postnatally diagnosed classical Goldenhar syndrome features like hemifacial microsomia, preauricular and facial skin tags, coloboma of eyelids, epibulbar dermoid.